• Gene id: 8326

Gene Summary

• Gene Symbol: FZD9   Gene   UCSC   Ensembl
• Aliases: CD349, FZD3
• Gene name: frizzled class receptor 9
• Alternate names: frizzled-9, frizzled 9, seven transmembrane spanning receptor, frizzled family receptor 9, frizzled homolog 9, fz-9, fzE6, hFz9,
• Gene location: 7q11.23 (73433777: 73436119)     Exons: 1     NC_000007.14
• Gene summary(Entrez): Members of the 'frizzled' gene family encode 7-transmembrane domain proteins that are receptors for Wnt signaling proteins. The FZD9 gene is located within the Williams syndrome common deletion region of chromosome 7, and heterozygous deletion of the FZ
• OMIM: 601766

Protein Summary

• Protein general information: O00144  
  • Name: Frizzled 9 (Fz 9) (hFz9) (FzE6) (CD antigen CD349)
  • Length: 591  
  • Mass: 64466
  • Tissue specificity: Expressed predominantly in adult and fetal brain, testis, eye, skeletal muscle and kidney. Moderately expressed in pancreas, thyroid, adrenal cortex, small intestine and stomach. Detected in fetal liver and kidney. Expressed in neural
• Sequence:

  MAVAPLRGALLLWQLLAAGGAALEIGRFDPERGRGAAPCQAVEIPMCRGIGYNLTRMPNLLGHTSQGEAAAELAE
  FAPLVQYGCHSHLRFFLCSLYAPMCTDQVSTPIPACRPMCEQARLRCAPIMEQFNFGWPDSLDCARLPTRNDPHA
  LCMEAPENATAGPAEPHKGLGMLPVAPRPARPPGDLGPGAGGSGTCENPEKFQYVEKSRSCAPRCGPGVEVFWSR
  RDKDFALVWMAVWSALCFFSTAFTVLTFLLEPHRFQYPERPIIFLSMCYNVYSLAFLIRAVAGAQSVACDQEAGA
  LYVIQEGLENTGCTLVFLLLYYFGMASSLWWVVLTLTWFLAAGKKWGHEAIEAHGSYFHMAAWGLPALKTIVILT
  LRKVAGDELTGLCYVASTDAAALTGFVLVPLSGYLVLGSSFLLTGFVALFHIRKIMKTGGTNTEKLEKLMVKIGV
  FSILYTVPATCVIVCYVYERLNMDFWRLRATEQPCAAAAGPGGRRDCSLPGGSVPTVAVFMLKIFMSLVVGITSG
  VWVWSSKTFQTWQSLCYRKIAAGRARAKACRAPGSYGRGTHCHYKAPTVVLHMTKTDPSLENPTHL

• Structural information:
  • Protein Domains: (34..15-)
    (/note="FZ-)
    (/evidence="ECO:0000255|PROSITE-ProRule:PRU00090"-)
  • Interpro: IPR015526  IPR000539  IPR020067  IPR036790  IPR017981  
  • Prosite: PS50038 PS50261
  • STRING: ENSP00000345785
• Other Databases: GeneCards:  FZD9  Malacards:  FZD9

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0042813	Wnt-activated receptor activity	IBA	molecular function
GO:0060070	canonical Wnt signaling pathway	IBA	biological process
GO:0017147	Wnt-protein binding	IBA	molecular function
GO:0016021	integral component of membrane	IBA	cellular component
GO:0005886	plasma membrane	IBA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	ISS	biological process
GO:0051902	negative regulation of mitochondrial depolarization	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	ISS	biological process
GO:0031966	mitochondrial membrane	ISS	cellular component
GO:0043065	positive regulation of apoptotic process	ISS	biological process
GO:0001836	release of cytochrome c from mitochondria	ISS	biological process
GO:0043524	negative regulation of neuron apoptotic process	IMP	biological process
GO:0030501	positive regulation of bone mineralization	ISS	biological process
GO:0001503	ossification	ISS	biological process
GO:1990523	bone regeneration	ISS	biological process
GO:0042813	Wnt-activated receptor activity	ISS	molecular function
GO:1904394	negative regulation of skeletal muscle acetylcholine-gated channel clustering	ISS	biological process
GO:1904393	regulation of skeletal muscle acetylcholine-gated channel clustering	ISS	biological process
GO:1901029	negative regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway	ISS	biological process
GO:0060546	negative regulation of necroptotic process	ISS	biological process
GO:0051480	regulation of cytosolic calcium ion concentration	ISS	biological process
GO:0005794	Golgi apparatus	ISS	cellular component
GO:0005789	endoplasmic reticulum membrane	ISS	cellular component
GO:0071157	negative regulation of cell cycle arrest	IMP	biological process
GO:2000179	positive regulation of neural precursor cell proliferation	IMP	biological process
GO:0004888	transmembrane signaling receptor activity	IEA	molecular function
GO:0007166	cell surface receptor signaling pathway	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0007165	signal transduction	IEA	biological process
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0007275	multicellular organism development	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0016021	integral component of membrane	IEA	cellular component
GO:0004930	G protein-coupled receptor activity	IEA	molecular function
GO:0007186	G protein-coupled receptor signaling pathway	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0042813	Wnt-activated receptor activity	TAS	molecular function
GO:0005886	plasma membrane	TAS	cellular component
GO:0007399	nervous system development	TAS	biological process
GO:0016021	integral component of membrane	TAS	cellular component
GO:0016055	Wnt signaling pathway	IEA	biological process
GO:0042813	Wnt-activated receptor activity	IEA	molecular function
GO:0098794	postsynapse	IEA	cellular component
GO:0098978	glutamatergic synapse	IEA	cellular component
GO:0099566	regulation of postsynaptic cytosolic calcium ion concentration	IEA	biological process
GO:0001503	ossification	IEA	biological process
GO:0007405	neuroblast proliferation	IEA	biological process
GO:0007611	learning or memory	IEA	biological process
GO:0030183	B cell differentiation	IEA	biological process
GO:0030501	positive regulation of bone mineralization	IEA	biological process
GO:0031527	filopodium membrane	IEA	cellular component
GO:0042813	Wnt-activated receptor activity	IEA	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:1904393	regulation of skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:1904394	negative regulation of skeletal muscle acetylcholine-gated channel clustering	IEA	biological process
GO:1990523	bone regeneration	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0099173	postsynapse organization	IEA	biological process
GO:0005886	plasma membrane	IEA	cellular component
GO:0090263	positive regulation of canonical Wnt signaling pathway	IEA	biological process
GO:0042803	protein homodimerization activity	IPI	molecular function
GO:0046982	protein heterodimerization activity	IPI	molecular function
GO:0005737	cytoplasm	IDA	cellular component
GO:0005737	cytoplasm	IDA	cellular component
GO:0009986	cell surface	IDA	cellular component
GO:0005886	plasma membrane	IEA	cellular component
GO:0005886	plasma membrane	IDA	cellular component
GO:0017147	Wnt-protein binding	IPI	molecular function

KEGG pathways

Pathway id	Pathway name
hsa05200	Pathways in cancer
hsa05010	Alzheimer disease
hsa05165	Human papillomavirus infection
hsa05205	Proteoglycans in cancer
hsa04310	Wnt signaling pathway
hsa04150	mTOR signaling pathway
hsa04390	Hippo signaling pathway
hsa05225	Hepatocellular carcinoma
hsa04934	Cushing syndrome
hsa05226	Gastric cancer
hsa04550	Signaling pathways regulating pluripotency of stem cells
hsa05224	Breast cancer
hsa04916	Melanogenesis
hsa05217	Basal cell carcinoma

Diseases

Associated diseases	References
Williams-Beuren syndrome	KEGG:H01439
Williams-Beuren syndrome	KEGG:H01439
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq